Rhizomelic Bone Dysplasia with Club‐like Femora (Case report and confirmation of a syndrome)

Abstract

A newborn with rhizomelic bone dysplasia with club-like femora is reported. This is the fourth case of this easily recognizable, recently reported, congenital bone disease. Maroteaux et al recently reported two patients with rhizomelic bone dysplasia and club-like femora as a distinctive new bone dysplasia. Their observation was confirmed by Gugliantini et al (2) who reported another case. This paper reports a fourth patient with this easily recognisable disorder.